Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	OXTR
Approved Name	oxytocin receptor
Location	3p25
Position	chr3:8750408-8769628, -1
External Links	HGNC: 8529 Entrez Gene: 5021 Ensembl: ENSG00000180914 UCSC: uc003brc.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Costa, B.,2009	SNP: rs2254298, rs53576	The bipolar group did not reveal significant differences compared to control subjects for the SNPs in OXTR gene.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 47)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007565	female pregnancy	biological process	IEA	15
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[10858434]	158

GO terms by database search (count: 44)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070371	ERK1 and ERK2 cascade	biological process	IEA	3
GO:0060137	maternal process involved in parturition	biological process	IEA	2
GO:0060406	positive regulation of penile erection	biological process	IEA	3
GO:0042277	peptide binding	molecular function	IBA	11
GO:0007166	cell surface receptor signaling pathway	biological process	TAS[1313946]	23
GO:0034059	response to anoxia	biological process	IEA	1
GO:0007595	lactation	biological process	TAS[1313946]	5
GO:0042713	sperm ejaculation	biological process	IEA	3
GO:0051968	positive regulation of synaptic transmission, glutamatergic	biological process	IEA	8
GO:0005902	microvillus	cellular component	IEA	2
GO:0035176	social behavior	biological process	IBA	17
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0006936	muscle contraction	biological process	TAS[1313946]	10
GO:0005000	vasopressin receptor activity	molecular function	IBA	2
GO:0042711	maternal behavior	biological process	IBA	5
GO:0042220	response to cocaine	biological process	IEA	12
GO:0060455	negative regulation of gastric acid secretion	biological process	IEA	1
GO:0001967	suckling behavior	biological process	IEA	3
GO:0030431	sleep	biological process	IEA	3
GO:0021537	telencephalon development	biological process	IEA	5
GO:0042755	eating behavior	biological process	IEA	5
GO:0048565	digestive tract development	biological process	IEA	4
GO:0007613	memory	biological process	IEA	22
GO:0007507	heart development	biological process	IEA	20
GO:0042493	response to drug	biological process	IEA	57
GO:0045907	positive regulation of vasoconstriction	biological process	IBA	12
GO:0045777	positive regulation of blood pressure	biological process	IEA	4
GO:0010701	positive regulation of norepinephrine secretion	biological process	IEA	1
GO:1901652	response to peptide	biological process	IBA	5
GO:0001992	regulation of systemic arterial blood pressure by vasopressin	biological process	IBA	3
GO:0032870	cellular response to hormone stimulus	biological process	IBA	9
GO:0032570	response to progesterone	biological process	IEA	5
GO:0017046	peptide hormone binding	molecular function	IEA	4
GO:0034097	response to cytokine	biological process	IEA	4
GO:0070474	positive regulation of uterine smooth muscle contraction	biological process	IEA	2
GO:0007204	positive regulation of cytosolic calcium ion concentration	biological process	IEA	21
GO:0004990	oxytocin receptor activity	molecular function	IEA	1
GO:0032230	positive regulation of synaptic transmission, GABAergic	biological process	IEA	5
GO:0043434	response to peptide hormone	biological process	IEA	9
GO:0007186	G-protein coupled receptor signaling pathway	biological process	IBA	64
GO:0051965	positive regulation of synapse assembly	biological process	IEA	5
GO:0032355	response to estradiol	biological process	IEA	11
GO:0005913	cell-cell adherens junction	cellular component	IEA	2

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
OXTR	AVP	NO	in vivo	7921229
OXTR	OXT	NO	in vitro	10698266
OXTR	GPRASP1	NO	in vitro	15452121

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2254298	chr3:8760542 - 8760542(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs53576	chr3:8762685 - 8762685(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs2268491		chr3:8758712 - 8758712(1)	intron_variant; non_coding_transcript_variant
rs2254295		chr3:8760606 - 8760606(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
3p25	chr3:8100000-16300000	1 (0/1/0)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p24-p26	chr3:0-30800000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
20547038	993	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
19515497	A positive association between the GG genotype of OXTR SNPs (6930G>A or 9073G>A) and unipolar depression was demonstrated.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr3:8750408..8769628 View in gBrowse